Establishing the Genetic Profile of Multiple Hereditary Exostoses (HME) in Families of BC

This study has been terminated.
(This study is recruiting under a different title - "Genotype-Phenotype Correlation of Multiple Hereditary Exostoses: Multicentre Project" NCT00474331)
Sponsor:
Collaborators:
Circle of Care
Vancouver Foundation
Children's & Women's Health Centre of British Columbia
Information provided by:
University of British Columbia
ClinicalTrials.gov Identifier:
NCT00473850
First received: May 14, 2007
Last updated: April 13, 2011
Last verified: April 2011
  Purpose

The purpose of this study is to establish the genetic profile of families in British Columbia with HME.


Condition
Exostoses, Multiple Hereditary

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: Establishing the Genetic Profile of Multiple Hereditary Exostoses (HME) in Families of BC

Resource links provided by NLM:


Further study details as provided by University of British Columbia:

Estimated Enrollment: 2000
Study Start Date: December 1998
Estimated Study Completion Date: March 2023
Detailed Description:

The purpose of this study is to establish the genetic make-up of families and patients with HME. This will occur as the patient presents to a regular clinic visit. Dr. Alvarez will be introduced to interested patients and their parent(s) and a brief discussion about the project will occur. If the patient and their direct family are interested they will be entered into the study. This will involve interviewing the patients and their direct family. This interview will take about 1 hour. We are interested in identifying all affected family members as far up the family tree as possible. We ask that the idea of the study be introduced to extended family members by the participating family members and then have them call Dr. Alvarez to set up an appointment. Each available member will be interviewed and a physical exam done to determine the location of osteochondromas. In addition, Xrays will be done to determine the location of all osteochondromas. All Xrays will be reviewed. No new ones will be taken unless it is part of the patient's routine care.

To complete the genetic work up DNA analysis will be done on all available family members. This will entail obtaining a blood sample from each family member willing to partake in the study. These blood samples will be used only for the purpose of identifying abnormalities in the genes related to osteochondromas. The blood samples will be taken at British Columbia's Children's Hospital and processed there. DNA samples will be kept confidential.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Benetic profile of families in British Columbia with HME.

Criteria

Inclusion Criteria:

  • Diagnosed with HME
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00473850

Locations
Canada, British Columbia
BC Children's Hospital
Vancouver, British Columbia, Canada, V6H 3V4
Sponsors and Collaborators
University of British Columbia
Circle of Care
Vancouver Foundation
Children's & Women's Health Centre of British Columbia
Investigators
Principal Investigator: Christine Alvarez, MD University of British Columbia
  More Information

No publications provided

Responsible Party: Dr. Christine Alvarez, University of British Columbia
ClinicalTrials.gov Identifier: NCT00473850     History of Changes
Other Study ID Numbers: H98-70441
Study First Received: May 14, 2007
Last Updated: April 13, 2011
Health Authority: Canada: Health Canada

Keywords provided by University of British Columbia:
DNA sequencing
EXT genes
Hereditary Multiple Exostoses,
also known as Multiple Hereditary Exostoses,
also known as Hereditary Multiple Osteochondromas

Additional relevant MeSH terms:
Exostoses
Osteophyte
Osteochondroma
Exostoses, Multiple Hereditary
Osteochondromatosis
Hyperostosis
Bone Diseases
Musculoskeletal Diseases
Neoplasms, Bone Tissue
Neoplasms, Connective Tissue
Neoplasms, Connective and Soft Tissue
Neoplasms by Histologic Type
Neoplasms
Osteochondrodysplasias
Bone Diseases, Developmental
Neoplastic Syndromes, Hereditary
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on September 30, 2014